Sowada N et al. Mutations of PTPN23 in developmental and epileptic encephalopathy. Hum Genet. 2007;136(11-12):1455-1461.  PMID: 29090338

Alazami A et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep 2015;10(2):148-161.  PMID: 25558065

Trujillano D et al. Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Eur J Hum Genet;25(2):176-182.  PMID: 27848944

Personal communication with Dr. Helly Goez, MD, FRCPC, a pediatric neurologist at Edmonton Clinic Health Academy.